About: snowflake vitreoretinal degeneration

Not logged in : Login

(Sponging disallowed)

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: snowflake vitreoretinal degeneration Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease eye degenerative disease nodeID://b50945077
label	snowflake vitreoretinal degeneration
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111570
database_cross_reference	GARD:9706 MESH:C536677 OMIM:193230 ORDO:91496 UMLS_CUI:C1860405
has_exact_synonym	SVD (en) vitreoretinal degeneration, snowflake type (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945078

Faceted Search & Find service v1.17_git150 as of Jan 20 2025

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3332 as of Jan 29 2025, on Linux (x86_64-generic-linux-glibc25), Single-Server Edition (378 GB total memory, 24 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software